A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5590117



Internal ID21538685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2191829..2191884hg38UCSC Ensembl
chr12:2300995..2301050hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17079463
SamplesHG00732
Known GenesCACNA1C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5590117
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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